NDLI: Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes

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Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes

Content Provider	PubMed Central
Author	Nishio, Shin-ya Hayashi, Yoshiharu Watanabe, Manabu Usami, Shin-ichi
Copyright Year	2015
Abstract	Background: Congenital hearing loss is one of the most common sensory disorders, with 50–70% of cases attributable to genetic causes. Although recent advances in the identification of deafness genes have resulted in more accurate molecular diagnosis, leading to the better determination of suitable clinical interventions, difficulties remain with regard to clinical applications due to the extreme genetic heterogeneity of deafness. Aim: Toward more effective genetic testing, we adopted Massively Parallel DNA Sequencing (MPS) of target genes using an Ion PGM™ system and an Ion AmpliSeq™ panel to diagnose common mutations responsible for deafness and discover rare causative gene mutations. Before its clinical application, we investigated the accuracy of MPS-based genetic testing. Results: We compared the results of Invader assay-based genetic screening, the accuracy of which has already been verified in previous studies, with those of MPS-based genetic testing for a large population of Japanese deafness patients and revealed that over 99.98% of the results were the same for each genetic testing system. Conclusion: The Ion Personal Genome Machine system had sufficient uniformity and accuracy for application to the clinical diagnosis of common causative mutations and efficiently identified rare causative mutations and/or mutation candidates.
Related Links	http://dx.doi.org/10.1089/gtmb.2014.0252
Starting Page	209
File Format	PDF
ISSN	19450257
e-ISSN	19450257
Journal	Genetic Testing and Molecular Biomarkers
Issue Number	4
Volume Number	19
Language	English
Publisher	Mary Ann Liebert, Inc.
Publisher Date	2015-04-01
Access Restriction	Open
Rights Holder	Mary Ann Liebert, Inc.
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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